Liver and intrahepatic bile ducts - nontumor
Metabolic diseases
GM2 gangliosidosis

Author: Komal Arora, M.D. (see Authors page)

Revised: 27 October 2017, last major update April 2012

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PubMed Search: GM2 gangliosidosis[TIAB] liver

Cite this page: Arora, K. GM2 gangliosidosis. PathologyOutlines.com website. http://pathologyoutlines.com/topic/liverGMgangliosidosis.html. Accessed December 14th, 2017.
Definition / general
  • Autosomal recessive, neurodegenerative, lysosomal storage disease, due to inherited deficiency of lysosomal β-hexosaminidase (HexA), from mutations in the HEXA (Tay-Sachs variant) or the HEXB (Sandhoff variant) genes
  • Enzyme deficiency in many patients with juvenile or adult onset forms is due to production of unstable protein, which may be partially rescued following the growth of patient cells in the presence of pyrimethamine (Mol Genet Metab 2011;102:6)
  • Juvenile GM2 gangliosidosis is clinically heterogeneous (Pediatrics 2006;118:e1550)
Microscopic (histologic) description
  • Normal
Electron microscopy description
  • "Zebra bodies" - membrane bound laminated inclusions
Electron microscopy images

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Mucopolysaccharidosis (such as Hurler disease): membranous gangliosides (zebra bodies) in neuronal lysosomes

Niemann-Pick disease